mitogen-activated protein kinase binding protein 1

KIAA0596

NPHP20

mitogen activated protein kinase binding protein 1

Mitogen-activated protein kinase-binding protein 1

JNK-binding protein 1

JNKBP-1

This gene encodes a scaffold protein that regulates the JNK (c-Jun N-terminal kinase) and NOD2 (nucleotide-binding oligomerization domain-containing protein 2) signaling pathways. The encoded protein interacts with another related JNK pathway scaffold protein, WDR62, via a conserved dimerization domain, and enhances JNK signaling. This protein may play a role in bacterial immunity by binding to the NOD2 receptor and negatively regulating downstream antibacterial and pro-inflammatory signaling. Mutations in this gene that impair cellular localization of the encoded protein cause a form of nephronophthisis, an autosomal-recessive kidney disorder, in human patients. [provided by RefSeq, May 2017].

Varaico: Literature-Extracted Genetic Variants

MAPKBP1

RefSeq Summary

Pfam Domains

Gene Aliases

HGNC Name

HGNC Alias Symbols